Archive | November 23, 2011

First NGS Based Trisomy 21 Test Launched

Several companies have announced in 2011 to launch Trisomy 21 tests based on Next Generation Sequencing as described in a blog post from May. I have a short update for you on what has happened in the diagnostics market since May.

In fact only several months after these announcements the first test has been brought to market by Sequenom. The test has been launched in October 2011 and company officials have disclosed that out-of-pocket costs for the test are $235. The turn-around-time for the tests is said to be 8-10 days after sample submission. In a supporting large-scale and blinded clinical validation study the company and collaborators have shown a detection rate of 98.6% and a false positive rate of 0.2% while simulating throughput and turnaround times of clinical practice.

The company Verinata is not far behind. The company is currently conducting a blinded pivotal study to further validate its first prenatal tests to identify multiple fetal chromosomal abnormalities that the company is expecting to launch late this year or early next year.

It remains exciting to wait and see which company finally is able to offer a convenient and affordable test and how the acceptance of the test on the market will look like.